ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.85C>T (p.Arg29Trp)

gnomAD frequency: 0.00003  dbSNP: rs577022740
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001367207 SCV001563551 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2024-12-10 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004006807 SCV004822905 uncertain significance Malignant hyperthermia, susceptibility to, 5 2023-12-13 criteria provided, single submitter clinical testing This missense variant replaces arginine with tryptophan at codon 29 of the CACNA1S protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with CACNA1S-related disorders in the literature. This variant has been identified in 6/251472 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV005005214 SCV005633569 uncertain significance Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5; Thyrotoxic periodic paralysis, susceptibility to, 1; Congenital myopathy 18 2024-04-20 criteria provided, single submitter clinical testing

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